Hypoplastic enamel-onycholysis-hypohidrosis syndrome- MedGen UID:
- 140809
- •Concept ID:
- C0406735
- •
- Disease or Syndrome
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
Witkop syndrome is a rare autosomal dominant ectodermal dysplasia involving the teeth and nails. Although a few reported cases have sparse or fine hair, almost all affected individuals have normal hair, sweat glands, and ability to tolerate heat. Affected individuals have a variable number and variable types of congenitally missing permanent and/or primary teeth, which frequently results in lip eversion due to loss of occlusion in the vertical dimension. Nails are generally thin, slow-growing, brittle, and spoon-shaped (koilonychia). Toenails are usually more severely affected than fingernails. The nail defects are alleviated with age and may not be easily detectable during adulthood (summary by Jumlongras et al., 2001).
Hypotrichosis 7- MedGen UID:
- 322969
- •Concept ID:
- C1836672
- •
- Disease or Syndrome
Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. Affected individuals often cannot grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair may be sparse as well. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) and a decrease in body hair.\n\nRarely, people with autosomal recessive hypotrichosis have skin problems affecting areas with sparse hair, such as redness (erythema), itchiness (pruritus), or missing patches of skin (erosions) on the scalp. In areas of poor hair growth, they may also develop bumps called hyperkeratotic follicular papules that develop around hair follicles, which are specialized structures in the skin where hair growth occurs.
Hypotrichosis-lymphedema-telangiectasia syndrome- MedGen UID:
- 375070
- •Concept ID:
- C1843004
- •
- Disease or Syndrome
Hypotrichosis-lymphedema-telangiectasia syndrome is an autosomal recessive disorder characterized by these 3 features, which begin at birth or in early childhood and are progressive (summary by Irrthum et al., 2003).
Pure hair and nail ectodermal dysplasia- MedGen UID:
- 400883
- •Concept ID:
- C1865951
- •
- Disease or Syndrome
Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.
Hypotrichosis 5- MedGen UID:
- 440568
- •Concept ID:
- C2748535
- •
- Disease or Syndrome
Hypotrichosis-5 (HYPT5), also known as Marie Unna hereditary hypotrichosis-2 (MUHH2), is a form of hereditary hypotrichosis characterized by twisting hair. Affected individuals have little or no scalp hair at birth, wiry and irregular scalp hair in childhood, and sparse or no forehead and parietal hair at puberty. Eyebrows and eyelashes are thin, and pubic and axillary hair fails to develop. Scarring alopecia is modest, and vertex hair is normal (summary by Zhang et al., 2012).
For a general phenotypic description of Marie Unna hereditary hypotrichosis, see MUHH1 (146550).
For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see 605389.
Hypotrichosis 3- MedGen UID:
- 462782
- •Concept ID:
- C3151432
- •
- Disease or Syndrome
Hypotrichosis simplex can affect all body hair (generalized; see 605389) or be limited to the scalp. Usually patients with the scalp-limited form of hypotrichosis present with normal hair at birth; they experience a progressive, gradual loss of scalp hair beginning at the middle of the first decade and leading to almost complete loss of scalp hair by the third decade. A few sparse, fine, short hairs remain in some individuals. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Light and electron microscopy of hairs from patients with early hypotrichosis simplex revealed no structural changes, whereas hairs from patients with advanced hypotrichosis showed focal areas of defective cuticular structure. Men and women are equally affected (summary by Betz et al., 2000).
For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (605389).
Ectodermal dysplasia 7, hair/nail type- MedGen UID:
- 767031
- •Concept ID:
- C3554117
- •
- Disease or Syndrome
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.
Ectodermal dysplasia 9, hair/nail type- MedGen UID:
- 767041
- •Concept ID:
- C3554127
- •
- Disease or Syndrome
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia) (summary by Lin et al., 2012).
Polydactyly, postaxial, type A6- MedGen UID:
- 815219
- •Concept ID:
- C3808889
- •
- Disease or Syndrome
Hypotrichosis 12- MedGen UID:
- 863000
- •Concept ID:
- C4014563
- •
- Disease or Syndrome
Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene.
Hypotrichosis 13- MedGen UID:
- 863053
- •Concept ID:
- C4014616
- •
- Disease or Syndrome
Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene.